Premature Ovarian Failure 10; Pof10

Description

Premature ovarian failure-10 (POF10) represents a syndrome characterized by primary amenorrhea, hypergonadotropic ovarian insufficiency, and genomic instability in somatic cells.For a general phenotypic description and discussion of genetic heterogeneity of premature ovarian failure, see POF1 (OMIM ).For a discussion of genetic heterogeneity of age at natural menopause, see MENOQ1 (OMIM ).

Clinical Features

Top most frequent phenotypes and symptoms related to Premature Ovarian Failure 10; Pof10

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Intellectual disability, mild
  • Hypogonadism
  • Hypothyroidism
  • Conductive hearing impairment
  • Delayed puberty
  • Decreased testicular size
  • Amenorrhea

And another 11 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Premature Ovarian Failure 10; Pof10 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Premature Ovarian Failure Sequencing Panel.

By Genetic Services Laboratory University of Chicago (United States).

BMP15, FOXL2, MCM8, PSMC3IP, HFM1, NOBOX, FIGLA, FSHR, LMNA, NR5A1
Specificity
10 %
Genes
100 %
Premature Ovarian Failure Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago (United States).

BMP15, FOXL2, MCM8, PSMC3IP, HFM1, NOBOX, FIGLA, FSHR, LMNA, NR5A1
Specificity
10 %
Genes
100 %
Premature Ovarian Failure via MCM8 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

MCM8
Specificity
100 %
Genes
100 %
Female Infertility Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

BMP15, SEMA3A, SEMA3E, FOXL2, SOX10, SOX2, SOX3, SOX9, SRA1, SRD5A2, SRY, STAG3, STAR, TAC3, TACR3, WNT4, WT1, WWOX, ZP1, ARL6 , (...)

View the complete list with 84 more genes
Specificity
1 %
Genes
100 %
Disorders of Sex Development (DSD) and Infertility Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

ROR2, SALL1, BMP15, BMP4, SEMA3A, SEMA3E, BMP7, FOXL2, BRDT, SOS1, SOX10, SOX2, SOX3, SOX9, SRA1, SRD5A2, SRY, STAG3, STAR, AURKC , (...)

View the complete list with 187 more genes
Specificity
1 %
Genes
100 %
Premature Ovarian Failure (POF) Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

BMP15, FOXL2, STAG3, MCM8, PSMC3IP, HFM1, CLPP, MCM9, NOBOX, FIGLA, CYP17A1, CYP19A1, SOHLH1, EIF2B2, EIF2B4, EIF2B5, AIRE, FSHR, GALT, LMNA , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %
MCM8.

By Fulgent Genetics Fulgent Genetics (United States).

MCM8
Specificity
100 %
Genes
100 %

You can get up to -1 more panels with our dedicated tool

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Symptoms Checker

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